### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COX15) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "{{iNote}}" "COX15" "cytochrome c oxidase assembly homolog 15 (yeast)" "10" "q24" "unknown" "NC_000010.10" "UD_138304635063" "" "" "" "1" "1" "2263" "1355" "603646" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:44:12" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000082" "COX15" "transcript variant X1" "001" "XM_005269539.1" "" "XP_005269596.1" "" "" "" "-82" "1514" "1167" "101491888" "101455886" "00001" "2013-11-07 13:46:58" "" "" "" "10" "00000083" "COX15" "transcript variant 2" "002" "NM_004376.5" "" "NP_004367.2" "" "" "" "-617" "5833" "1167" "101492423" "101468505" "00001" "2013-11-07 13:46:58" "" "" "" "10" "00000084" "COX15" "transcript variant 1" "003" "NM_078470.4" "" "NP_510870.1" "" "" "" "-617" "7072" "1233" "101492423" "101468505" "00001" "2013-11-07 13:46:58" "" "" "" "10" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00641" "615119" "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" "615119" "" "" "" "00000" "2019-06-16 12:00:01" "" "" "Added by batch from OMIM 2019-6-16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "COX15" "00641" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 84 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000231" "0" "99" "10" "101483814" "101483814" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:43" "COX15_000001" "g.101483814G>A" "" "{PMID:12474143:12474143};{PMID:15235026:15235026};{PMID:21412973:21412973};{PMID:2175025:2175025}" "" "rs28939711" "subst" "0" "; clinvar; ensembl;" "4.610" "" "" "" "" "MSCV_0000231" "" "0000016243" "0" "55" "10" "101468698" "101468698" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:39:32" "ENTPD7_000021" "g.101468698A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016243" "" "0000016244" "0" "55" "10" "101468730" "101468730" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:39:35" "ENTPD7_000022" "g.101468730C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016244" "" "0000016245" "0" "55" "10" "101468732" "101468732" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:39:39" "ENTPD7_000023" "g.101468732C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016245" "" "0000016246" "0" "55" "10" "101468736" "101468736" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:39:42" "ENTPD7_000024" "g.101468736T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016246" "" "0000016247" "0" "55" "10" "101468779" "101468779" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-21 05:13:34" "ENTPD7_000025" "g.101468779C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016247" "" "0000016248" "0" "55" "10" "101468953" "101468953" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:59" "ENTPD7_000017" "g.101468953G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016248" "" "0000016249" "0" "55" "10" "101469019" "101469019" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:03" "ENTPD7_000018" "g.101469019G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016249" "" "0000016250" "0" "55" "10" "101469061" "101469061" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:07" "ENTPD7_000019" "g.101469061A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016250" "" "0000016251" "0" "55" "10" "101469354" "101469354" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:16:10" "ENTPD7_000020" "g.101469354T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016251" "" "0000016252" "0" "55" "10" "101469416" "101469416" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:53:20" "COX15_000052" "g.101469416C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016252" "" "0000016253" "0" "55" "10" "101469442" "101469442" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:53:25" "ENTPD7_000001" "g.101469442G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016253" "" "0000016254" "0" "33" "10" "101469510" "101469510" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-07-19 09:00:24" "ENTPD7_000002" "g.101469510A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016254" "" "0000016255" "0" "55" "10" "101469524" "101469524" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:53:32" "ENTPD7_000003" "g.101469524T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016255" "" "0000016256" "0" "11" "10" "101469605" "101469605" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-18 17:09:18" "ENTPD7_000004" "g.101469605G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016256" "" "0000016257" "0" "55" "10" "101469841" "101469841" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:53:41" "ENTPD7_000005" "g.101469841T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016257" "" "0000016258" "0" "33" "10" "101469903" "101469903" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:53:44" "ENTPD7_000006" "g.101469903T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016258" "" "0000016259" "0" "55" "10" "101469961" "101469961" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:53:48" "ENTPD7_000007" "g.101469961G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016259" "" "0000016260" "0" "55" "10" "101470085" "101470085" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:53:51" "ENTPD7_000008" "g.101470085C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016260" "" "0000016261" "0" "55" "10" "101470329" "101470329" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:53:56" "ENTPD7_000009" "g.101470329A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016261" "" "0000016262" "0" "55" "10" "101470330" "101470330" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:54:01" "ENTPD7_000010" "g.101470330C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016262" "" "0000016263" "0" "55" "10" "101470429" "101470429" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:54:07" "ENTPD7_000011" "g.101470429T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016263" "" "0000016264" "0" "55" "10" "101470531" "101470531" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:54:11" "ENTPD7_000012" "g.101470531A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016264" "" "0000016265" "0" "55" "10" "101470674" "101470674" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:54:25" "ENTPD7_000013" "g.101470674C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016265" "" "0000016266" "0" "11" "10" "101470858" "101470859" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:54:30" "ENTPD7_000014" "g.101470858_101470859insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016266" "" "0000016267" "0" "11" "10" "101470858" "101470859" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:54:36" "ENTPD7_000015" "g.101470858_101470859insAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016267" "" "0000016268" "0" "33" "10" "101470927" "101470927" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:54:39" "ENTPD7_000016" "g.101470927A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016268" "" "0000016269" "0" "55" "10" "101471097" "101471097" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:06" "COX15_000027" "g.101471097A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016269" "" "0000016270" "0" "55" "10" "101471446" "101471446" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:09" "COX15_000028" "g.101471446T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016270" "" "0000016271" "0" "55" "10" "101471487" "101471487" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:12" "COX15_000029" "g.101471487T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016271" "" "0000016272" "0" "00" "10" "101471589" "101471589" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:15" "COX15_000030" "g.101471589del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016272" "" "0000016273" "0" "55" "10" "101471643" "101471643" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:18" "COX15_000031" "g.101471643T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016273" "" "0000016274" "0" "55" "10" "101471676" "101471676" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:20" "COX15_000032" "g.101471676G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016274" "" "0000016275" "0" "33" "10" "101471695" "101471695" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:23" "COX15_000033" "g.101471695C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016275" "" "0000016276" "0" "55" "10" "101471854" "101471854" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 09:56:52" "COX15_000034" "g.101471854A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016276" "" "0000016277" "0" "55" "10" "101471885" "101471885" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 09:56:52" "COX15_000035" "g.101471885C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016277" "" "0000016278" "0" "55" "10" "101472062" "101472062" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-11 05:56:12" "COX15_000036" "g.101472062C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016278" "" "0000016279" "0" "55" "10" "101472151" "101472151" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-12 23:03:54" "COX15_000037" "g.101472151T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016279" "" "0000016280" "0" "55" "10" "101472284" "101472284" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:38" "COX15_000038" "g.101472284G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016280" "" "0000016281" "0" "55" "10" "101472493" "101472493" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:41" "COX15_000039" "g.101472493C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016281" "" "0000016282" "0" "55" "10" "101472494" "101472494" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:12:43" "COX15_000002" "g.101472494C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016282" "" "0000016283" "0" "55" "10" "101472551" "101472551" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:12:47" "COX15_000003" "g.101472551C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016283" "" "0000016284" "0" "55" "10" "101472568" "101472568" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:12:50" "COX15_000004" "g.101472568A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016284" "" "0000016285" "0" "55" "10" "101472628" "101472628" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:12:55" "COX15_000005" "g.101472628C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016285" "" "0000016286" "0" "55" "10" "101472651" "101472651" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:12:58" "COX15_000006" "g.101472651C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016286" "" "0000016287" "0" "55" "10" "101472750" "101472750" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-25 22:05:20" "COX15_000007" "g.101472750G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016287" "" "0000016288" "0" "55" "10" "101472870" "101472870" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-25 22:06:28" "COX15_000008" "g.101472870G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016288" "" "0000016289" "0" "00" "10" "101472914" "101472915" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:13:07" "COX15_000009" "g.101472914_101472915del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016289" "" "0000016290" "0" "55" "10" "101472983" "101472983" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:13:10" "COX15_000010" "g.101472983G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016290" "" "0000016291" "0" "55" "10" "101473035" "101473035" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-25 22:04:59" "COX15_000011" "g.101473035A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016291" "" "0000016292" "0" "55" "10" "101473147" "101473147" "subst" "35" "0.00884207" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:13:17" "COX15_000012" "g.101473147A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016292" "" "0000016293" "0" "11" "10" "101473218" "101473218" "subst" "35" "0.834845" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:13:19" "COX15_000013" "g.101473218A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016293" "" "0000016294" "0" "55" "10" "101473222" "101473222" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:13:22" "COX15_000014" "g.101473222G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016294" "" "0000016295" "0" "77" "10" "101476176" "101476176" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:13:25" "COX15_000015" "g.101476176A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016295" "" "0000016296" "0" "55" "10" "101476177" "101476177" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:13:30" "COX15_000016" "g.101476177G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016296" "" "0000016297" "0" "55" "10" "101476221" "101476221" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-25 22:07:40" "COX15_000017" "g.101476221G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016297" "" "0000016298" "0" "55" "10" "101478161" "101478161" "subst" "35" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:13:35" "COX15_000018" "g.101478161G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016298" "" "0000016299" "0" "55" "10" "101483746" "101483746" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:13:38" "COX15_000019" "g.101483746C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016299" "" "0000016300" "0" "77" "10" "101486711" "101486711" "subst" "35" "0.0030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:13:41" "COX15_000020" "g.101486711T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016300" "" "0000016301" "0" "77" "10" "101486775" "101486775" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:13:44" "COX15_000021" "g.101486775G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016301" "" "0000016302" "0" "77" "10" "101486855" "101486855" "subst" "51" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-01 02:09:05" "COX15_000022" "g.101486855G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016302" "" "0000016303" "0" "55" "10" "101486901" "101486901" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:07" "COX15_000023" "g.101486901C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016303" "" "0000016304" "0" "55" "10" "101489327" "101489327" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:12" "COX15_000024" "g.101489327A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016304" "" "0000016305" "0" "77" "10" "101489418" "101489418" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:18" "COX15_000025" "g.101489418C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016305" "" "0000016306" "0" "55" "10" "101489421" "101489421" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:14:23" "COX15_000026" "g.101489421C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016306" "" "0000016307" "0" "55" "10" "101489451" "101489451" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:43" "COX15_000040" "g.101489451C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016307" "" "0000016308" "0" "55" "10" "101489475" "101489475" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:48" "COX15_000041" "g.101489475C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016308" "" "0000016309" "0" "55" "10" "101491832" "101491832" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:51" "COX15_000042" "g.101491832T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016309" "" "0000016310" "0" "55" "10" "101491877" "101491877" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:54" "COX15_000043" "g.101491877A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016310" "" "0000016311" "0" "55" "10" "101491890" "101491890" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:57" "COX15_000044" "g.101491890C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016311" "" "0000016312" "0" "55" "10" "101491920" "101491920" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:39:59" "COX15_000045" "g.101491920T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016312" "" "0000016313" "0" "55" "10" "101491939" "101491939" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-25 22:03:58" "COX15_000046" "g.101491939A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016313" "" "0000016314" "0" "55" "10" "101492038" "101492038" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:40:18" "COX15_000047" "g.101492038G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016314" "" "0000016315" "0" "55" "10" "101492113" "101492113" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:40:22" "COX15_000048" "g.101492113G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016315" "" "0000016316" "0" "55" "10" "101492144" "101492144" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-05 06:33:26" "COX15_000049" "g.101492144G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016316" "" "0000016317" "0" "55" "10" "101492204" "101492204" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-25 22:12:42" "COX15_000050" "g.101492204G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016317" "" "0000016318" "0" "55" "10" "101492212" "101492212" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:40:34" "COX15_000051" "g.101492212G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016318" "" "0000016319" "0" "33" "10" "101492241" "101492241" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:08" "COX15_000053" "g.101492241G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016319" "" "0000016320" "0" "55" "10" "101492278" "101492278" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:13" "COX15_000054" "g.101492278A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016320" "" "0000016321" "0" "33" "10" "101492403" "101492403" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:55:19" "COX15_000055" "g.101492403T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016321" "" "0000016322" "0" "55" "10" "101492408" "101492408" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-30 12:00:03" "COX15_000056" "g.101492408G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016322" "" "0000024027" "0" "00" "10" "101480792" "101480792" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:25:01" "COX15_000058" "g.101480792G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024028" "0" "00" "10" "101483814" "101483814" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:33:29" "COX15_000001" "g.101483814G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024029" "0" "00" "10" "101486914" "101486914" "subst" "51" "0.000153775" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-25 09:56:52" "COX15_000057" "g.101486914G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 252 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000231" "00000082" "99" "649" "0" "649" "0" "c.649C>T" "5/9" "p.(Arg217Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000231" "00000083" "99" "649" "0" "649" "0" "c.649C>T" "5/9" "p.(Arg217Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000231" "00000084" "99" "649" "0" "649" "0" "c.649C>T" "5/9" "p.(Arg217Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000016243" "00000082" "00" "1101" "7407" "1101" "7407" "c.1101+7407T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016243" "00000083" "00" "5640" "0" "5640" "0" "c.*4473T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016243" "00000084" "00" "6879" "0" "6879" "0" "c.*5646T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016244" "00000082" "00" "1101" "7375" "1101" "7375" "c.1101+7375G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016244" "00000083" "00" "5608" "0" "5608" "0" "c.*4441G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016244" "00000084" "00" "6847" "0" "6847" "0" "c.*5614G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016245" "00000082" "00" "1101" "7373" "1101" "7373" "c.1101+7373G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016245" "00000083" "00" "5606" "0" "5606" "0" "c.*4439G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016245" "00000084" "00" "6845" "0" "6845" "0" "c.*5612G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016246" "00000082" "00" "1101" "7369" "1101" "7369" "c.1101+7369A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016246" "00000083" "00" "5602" "0" "5602" "0" "c.*4435A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016246" "00000084" "00" "6841" "0" "6841" "0" "c.*5608A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016247" "00000082" "00" "1101" "7326" "1101" "7326" "c.1101+7326G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016247" "00000083" "00" "5559" "0" "5559" "0" "c.*4392G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016247" "00000084" "00" "6798" "0" "6798" "0" "c.*5565G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016248" "00000082" "00" "1101" "7152" "1101" "7152" "c.1101+7152C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016248" "00000083" "00" "5385" "0" "5385" "0" "c.*4218C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016248" "00000084" "00" "6624" "0" "6624" "0" "c.*5391C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016249" "00000082" "00" "1101" "7086" "1101" "7086" "c.1101+7086C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016249" "00000083" "00" "5319" "0" "5319" "0" "c.*4152C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016249" "00000084" "00" "6558" "0" "6558" "0" "c.*5325C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016250" "00000082" "00" "1101" "7044" "1101" "7044" "c.1101+7044T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016250" "00000083" "00" "5277" "0" "5277" "0" "c.*4110T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016250" "00000084" "00" "6516" "0" "6516" "0" "c.*5283T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016251" "00000082" "00" "1101" "6751" "1101" "6751" "c.1101+6751A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016251" "00000083" "00" "4984" "0" "4984" "0" "c.*3817A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016251" "00000084" "00" "6223" "0" "6223" "0" "c.*4990A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016252" "00000082" "00" "1101" "6689" "1101" "6689" "c.1101+6689G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016252" "00000083" "00" "4922" "0" "4922" "0" "c.*3755G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016252" "00000084" "00" "6161" "0" "6161" "0" "c.*4928G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016253" "00000082" "00" "1101" "6663" "1101" "6663" "c.1101+6663C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016253" "00000083" "00" "4896" "0" "4896" "0" "c.*3729C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016253" "00000084" "00" "6135" "0" "6135" "0" "c.*4902C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016254" "00000082" "00" "1101" "6595" "1101" "6595" "c.1101+6595T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016254" "00000083" "00" "4828" "0" "4828" "0" "c.*3661T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016254" "00000084" "00" "6067" "0" "6067" "0" "c.*4834T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016255" "00000082" "00" "1101" "6581" "1101" "6581" "c.1101+6581A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016255" "00000083" "00" "4814" "0" "4814" "0" "c.*3647A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016255" "00000084" "00" "6053" "0" "6053" "0" "c.*4820A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016256" "00000082" "00" "1101" "6500" "1101" "6500" "c.1101+6500C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016256" "00000083" "00" "4733" "0" "4733" "0" "c.*3566C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016256" "00000084" "00" "5972" "0" "5972" "0" "c.*4739C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016257" "00000082" "00" "1101" "6264" "1101" "6264" "c.1101+6264A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016257" "00000083" "00" "4497" "0" "4497" "0" "c.*3330A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016257" "00000084" "00" "5736" "0" "5736" "0" "c.*4503A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016258" "00000082" "00" "1101" "6202" "1101" "6202" "c.1101+6202A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016258" "00000083" "00" "4435" "0" "4435" "0" "c.*3268A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016258" "00000084" "00" "5674" "0" "5674" "0" "c.*4441A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016259" "00000082" "00" "1101" "6144" "1101" "6144" "c.1101+6144C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016259" "00000083" "00" "4377" "0" "4377" "0" "c.*3210C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016259" "00000084" "00" "5616" "0" "5616" "0" "c.*4383C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016260" "00000082" "00" "1101" "6020" "1101" "6020" "c.1101+6020G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016260" "00000083" "00" "4253" "0" "4253" "0" "c.*3086G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016260" "00000084" "00" "5492" "0" "5492" "0" "c.*4259G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016261" "00000082" "00" "1101" "5776" "1101" "5776" "c.1101+5776T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016261" "00000083" "00" "4009" "0" "4009" "0" "c.*2842T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016261" "00000084" 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"" "" "" "" "" "-" "0000016299" "00000082" "00" "717" "0" "717" "0" "c.717G>T" "" "p.(Trp239Cys)" "r.(?)" "" "" "" "" "" "-" "0000016299" "00000083" "00" "717" "0" "717" "0" "c.717G>T" "" "p.(Trp239Cys)" "r.(?)" "" "" "" "" "" "-" "0000016299" "00000084" "00" "717" "0" "717" "0" "c.717G>T" "" "p.(Trp239Cys)" "r.(?)" "" "" "" "" "" "-" "0000016300" "00000082" "00" "582" "14" "582" "14" "c.582+14A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016300" "00000083" "00" "582" "14" "582" "14" "c.582+14A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016300" "00000084" "00" "582" "14" "582" "14" "c.582+14A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016301" "00000082" "00" "532" "0" "532" "0" "c.532C>T" "" "p.(Arg178Cys)" "r.(?)" "" "" "" "" "" "-" "0000016301" "00000083" "00" "532" "0" "532" "0" "c.532C>T" "" "p.(Arg178Cys)" "r.(?)" "" "" "" "" "" "-" "0000016301" "00000084" "00" "532" "0" "532" "0" "c.532C>T" "" "p.(Arg178Cys)" "r.(?)" "" "" "" "" "" "-" "0000016302" "00000082" "00" "452" "0" "452" "0" "c.452C>G" "" "p.(Ser151*)" "r.(?)" "" "" "" "" "" "-" "0000016302" "00000083" "00" "452" "0" "452" "0" "c.452C>G" "" "p.(Ser151*)" "r.(?)" "" "" "" "" "" "-" "0000016302" "00000084" "00" "452" "0" "452" "0" "c.452C>G" "" "p.(Ser151*)" "r.(?)" "" "" "" "" "" "-" "0000016303" "00000082" "00" "406" "0" "406" "0" "c.406G>C" "" "p.(Asp136His)" "r.(?)" "" "" "" "" "" "-" "0000016303" "00000083" "00" "406" "0" "406" "0" "c.406G>C" "" "p.(Asp136His)" "r.(?)" "" "" "" "" "" "-" "0000016303" "00000084" "00" "406" "0" "406" "0" "c.406G>C" "" "p.(Asp136His)" "r.(?)" "" "" "" "" "" "-" "0000016304" "00000082" "00" "255" "0" "255" "0" "c.255T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016304" "00000083" "00" "255" "0" "255" "0" "c.255T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016304" "00000084" "00" "255" "0" "255" "0" "c.255T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016305" "00000082" "00" "164" "0" "164" "0" "c.164G>A" "" "p.(Arg55Lys)" "r.(?)" "" "" "" "" "" "-" "0000016305" "00000083" "00" "164" "0" "164" "0" "c.164G>A" "" "p.(Arg55Lys)" "r.(?)" "" "" "" "" "" "-" "0000016305" "00000084" "00" "164" "0" "164" "0" "c.164G>A" "" "p.(Arg55Lys)" "r.(?)" "" "" "" "" "" "-" "0000016306" "00000082" "00" "161" "0" "161" "0" "c.161G>A" "" "p.(Gly54Glu)" "r.(?)" "" "" "" "" "" "-" "0000016306" "00000083" "00" "161" "0" "161" "0" "c.161G>A" "" "p.(Gly54Glu)" "r.(?)" "" "" "" "" "" "-" "0000016306" "00000084" "00" "161" "0" "161" "0" "c.161G>A" "" "p.(Gly54Glu)" "r.(?)" "" "" "" "" "" "-" "0000016307" "00000082" "00" "131" "0" "131" "0" "c.131G>A" "" "p.(Ser44Asn)" "r.(?)" "" "" "" "" "" "-" "0000016307" "00000083" "00" "131" "0" "131" "0" "c.131G>A" "" "p.(Ser44Asn)" "r.(?)" "" "" "" "" "" "-" "0000016307" "00000084" "00" "131" "0" "131" "0" "c.131G>A" "" "p.(Ser44Asn)" "r.(?)" "" "" "" "" "" "-" "0000016308" "00000082" "00" "107" "0" "107" "0" "c.107G>A" "" "p.(Arg36His)" "r.(?)" "" "" "" "" "" "-" "0000016308" "00000083" "00" "107" "0" "107" "0" "c.107G>A" "" "p.(Arg36His)" "r.(?)" "" "" "" "" "" "-" "0000016308" "00000084" "00" "107" "0" "107" "0" "c.107G>A" "" "p.(Arg36His)" "r.(?)" "" "" "" "" "" "-" "0000016309" "00000082" "00" "-26" "0" "-26" "0" "c.-26A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016309" "00000083" "00" "-26" "0" "-26" "0" "c.-26A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016309" "00000084" "00" "-26" "0" "-26" "0" "c.-26A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016310" "00000082" "00" "-71" "0" "-71" "0" "c.-71T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016310" "00000083" "00" "-71" "0" "-71" "0" "c.-71T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016310" "00000084" "00" "-71" "0" "-71" "0" "c.-71T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016311" "00000082" "00" "-82" "-2" "-82" "-2" "c.-84G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016311" "00000083" "00" "-84" "0" "-84" "0" "c.-84G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016311" "00000084" "00" "-84" "0" "-84" "0" "c.-84G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016312" "00000082" "00" "-82" "-32" "-82" "-32" "c.-114A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016312" "00000083" "00" "-114" "0" "-114" "0" "c.-114A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016312" "00000084" "00" "-114" "0" "-114" "0" "c.-114A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016313" "00000082" "00" "-82" "-51" "-82" "-51" "c.-133T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016313" "00000083" "00" "-133" "0" "-133" "0" "c.-133T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016313" "00000084" "00" "-133" "0" "-133" "0" "c.-133T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016314" "00000082" "00" "-82" "-150" "-82" "-150" "c.-232C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016314" "00000083" "00" "-232" "0" "-232" "0" "c.-232C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016314" "00000084" "00" "-232" "0" "-232" "0" "c.-232C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016315" "00000082" "00" "-82" "-225" "-82" "-225" "c.-307C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016315" "00000083" "00" "-307" "0" "-307" "0" "c.-307C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016315" "00000084" "00" "-307" "0" "-307" "0" "c.-307C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016316" "00000082" "00" "-82" "-256" "-82" "-256" "c.-338C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016316" "00000083" "00" "-338" "0" "-338" "0" "c.-338C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016316" "00000084" "00" "-338" "0" "-338" "0" "c.-338C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016317" "00000082" "00" "-82" "-316" "-82" "-316" "c.-398C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016317" "00000083" "00" "-398" "0" "-398" "0" "c.-398C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016317" "00000084" "00" "-398" "0" "-398" "0" "c.-398C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016318" "00000082" "00" "-82" "-324" "-82" "-324" "c.-406C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016318" "00000083" "00" "-406" "0" "-406" "0" "c.-406C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016318" "00000084" "00" "-406" "0" "-406" "0" "c.-406C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016319" "00000082" "00" "-82" "-353" "-82" "-353" "c.-435C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016319" "00000083" "00" "-435" "0" "-435" "0" "c.-435C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016319" "00000084" "00" "-435" "0" "-435" "0" "c.-435C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016320" "00000082" "00" "-82" "-390" "-82" "-390" "c.-472T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016320" "00000083" "00" "-472" "0" "-472" "0" "c.-472T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016320" "00000084" "00" "-472" "0" "-472" "0" "c.-472T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016321" "00000082" "00" "-82" "-515" "-82" "-515" "c.-597A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016321" "00000083" "00" "-597" "0" "-597" "0" "c.-597A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016321" "00000084" "00" "-597" "0" "-597" "0" "c.-597A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016322" "00000082" "00" "-82" "-520" "-82" "-520" "c.-602C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016322" "00000083" "00" "-602" "0" "-602" "0" "c.-602C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016322" "00000084" "00" "-602" "0" "-602" "0" "c.-602C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024027" "00000082" "00" "784" "0" "784" "0" "c.784C>T" "" "p.(Arg262*)" "r.(?)" "" "" "" "" "" "-" "0000024027" "00000083" "00" "784" "0" "784" "0" "c.784C>T" "" "p.(Arg262*)" "r.(?)" "" "" "" "" "" "-" "0000024027" "00000084" "00" "784" "0" "784" "0" "c.784C>T" "" "p.(Arg262*)" "r.(?)" "" "" "" "" "" "-" "0000024028" "00000082" "00" "649" "0" "649" "0" "c.649C>T" "" "p.(Arg217Trp)" "r.(?)" "" "" "" "" "" "-" "0000024028" "00000083" "00" "649" "0" "649" "0" "c.649C>T" "" "p.(Arg217Trp)" "r.(?)" "" "" "" "" "" "-" "0000024028" "00000084" "00" "649" "0" "649" "0" "c.649C>T" "" "p.(Arg217Trp)" "r.(?)" "" "" "" "" "" "-" "0000024029" "00000082" "00" "396" "-3" "396" "-3" "c.396-3C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024029" "00000083" "00" "396" "-3" "396" "-3" "c.396-3C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024029" "00000084" "00" "396" "-3" "396" "-3" "c.396-3C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0